FXN_GAA

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green FXN_GAA STR in Ataxia and cerebellar anomalies - narrow panel Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Friedreich ataxia OMIM:229300 Friedreich ataxia with retained reflexes OMIM:229300 Friedreich ataxia 1 MONDO:0100340 Tags STR
Green FXN_GAA STR in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Friedreich ataxia OMIM:229300 Friedreich ataxia with retained reflexes OMIM:229300 Friedreich ataxia 1 MONDO:0100340 Tags STR
No list FXN_GAA STR in Hypertrophic cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 4.9 Latest signed off version: v4.8 (1 May 2024) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Removed Expert list Phenotypes Friedreich ataxia OMIM:229300 Friedreich ataxia with retained reflexes OMIM:229300 Friedreich ataxia 1 MONDO:0100340 Tags STR curated_removed
Green FXN_GAA STR in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.311	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags STR
Green FXN_GAA STR in Childhood onset hereditary spastic paraplegia Version 5.1 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags STR
Green FXN_GAA STR in Adult onset hereditary spastic paraplegia Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS South West GLH London North GLH Expert Review Green Expert list Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags STR
Amber FXN_GAA STR in Adult onset neurodegenerative disorder Version 5.1 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Yorkshire and North East GLH Expert list Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags STR watchlist
Green FXN_GAA STR in Likely inborn error of metabolism - targeted testing not possible Version 5.1 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Friedreich ataxia OMIM:229300 Friedreich ataxia with retained reflexes OMIM:229300 Friedreich ataxia 1 MONDO:0100340 Tags STR
Green FXN_GAA STR in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.478	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags STR
No list FXN_GAA STR in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.9 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Removed Expert list Phenotypes Friedreich ataxia OMIM:229300 Friedreich ataxia with retained reflexes OMIM:229300 Friedreich ataxia 1 MONDO:0100340 Tags STR curated_removed
Red FXN_GAA STR in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 6.4 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Expert Review Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags STR
Green FXN_GAA STR in Hereditary ataxia with onset in adulthood Version 5.3 Latest signed off version: v5.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH Wessex and West Midlands GLH NHS GMS Expert Review Green Expert list Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags STR
Green FXN_GAA STR in Childhood onset dystonia, chorea or related movement disorder Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Friedreich ataxia OMIM:229300 Friedreich ataxia with retained reflexes OMIM:229300 Friedreich ataxia 1 MONDO:0100340 Tags STR